Y-Chromosome: Microdeletion Analysis

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Condition Description


This test is performed on patients with azoospermia or oligospermia, as 3-30% of these men will have microdeletions in the Y-chromosome. The type of deletion present can determine the cause of infertility in some males, and have prognostic value in determining intervention. There are a total of four AZoospermic Factor (AZF) regions on the Y-chromosome: AZFa, AZFb, AZFc, and AZFd. These deletions in the Yq11 region are mostly undetectable by cytogenetic analysis.

Most cases of Y-chromosome microdeletions are new mutations. If transmitted, any child receiving the Y-chromosome will have the microdeletion. In other words, all sons will be affected.


Molecular analysis can detect the presence/absence of these deletions by PCR (using eighteen sequence tagged sites).

Detection and Reference Range

Over 99% of AZFa, AZFb, AZFc, and AZFd will be detected by this assay.
Reference Range
Qualitative assay.

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

How to Order

Requisition Forms